ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3820_3821dup (p.Trp1275fs)

dbSNP: rs1598285120
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797587 SCV000937151 pathogenic Osteogenesis imperfecta type I 2018-10-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). This variant has not been reported in the literature in individuals with COL1A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1275Thrfs*57) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product.

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